Table 2 Clinical features and diagnostic yield of the patients who underwent CSF neurotransmitter measurements including the inherited neurotransmitter and non-neurotransmitter disorders
Category of clinical features | Patient number (percent) | Patient number for inherited neurotransmitter disorders | Patient number for non-neurotransmitter disorders |
|---|---|---|---|
Movement disorder and/or GDD | 38 (25%) | 2 patients | 1 patient |
GDD and movement disorder and epilepsy | 18 (12%) | None | 4 patients |
GDD and epilepsy | 66 (44%) | 2 patients | 7 patients |
GDD and hypotonia | 26 (17.5%) | None | 2 patients |
Newborn screening positive for PKU | 2 (1.5%) | 2 patients | None |